A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758328



Internal ID9980405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:57051490..57257826hg38UCSC Ensembl
Innerchr13:57625624..57831960hg19UCSC Ensembl
Innerchr13:56523625..56729961hg18UCSC Ensembl
Innerchr13:56523625..56729961hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38206337
hg19206337
hg18206337
hg17206337
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759939
Supporting Variantsessv12485, essv3697, essv7546, essv1180, essv15551, essv10802, essv24919, essv22477, essv19934, essv16497, essv12583, essv15216, essv8641, essv14592, essv17075, essv106, essv22240, essv21200, essv15503, essv4618, essv7781, essv23841, essv14477, essv16112, essv5132, essv4897, essv18409, essv1916, essv1743, essv23219, essv24059, essv13432, essv1514, essv3283, essv10394, essv20395, essv22877, essv17308, essv17702, essv9777, essv12000, essv18260, essv1591, essv14280, essv4982, essv22542, essv5222, essv3170, essv20554, essv14700, essv15389, essv18110, essv14401, essv4553, essv11812, essv17145, essv16322, essv434, essv2468, essv8232, essv9606, essv3028, essv21436, essv3736, essv21790, essv4292, essv8363, essv24584, essv4421, essv21973, essv15703, essv8733, essv24765, essv16038, essv1476, essv1138, essv10342, essv20785, essv11230, essv5815, essv23509, essv21015, essv8934, essv21276, essv13698, essv11759, essv6733, essv12988, essv18695, essv12751, essv22643, essv16428, essv22124, essv4201, essv21515, essv1376, essv14484, essv805, essv24478, essv13764, essv14174, essv23805, essv11840, essv18823, essv4673, essv20224, essv18943, essv8858, essv17781, essv23960, essv17009, essv14869, essv9387, essv8121, essv5232, essv6185, essv5569, essv764, essv17243, essv2187, essv10534, essv9438, essv24489, essv22969, essv10107, essv15871, essv21820, essv20920, essv6917, essv24000, essv7726, essv12315, essv4492, essv12618, essv23553, essv13614, essv11000, essv22512, essv21670, essv14060, essv21132, essv10232, essv22771, essv13833, essv11666, essv20012, essv14996, essv15346, essv6722, essv4041, essv10013, essv10684, essv20137, essv19186, essv12195, essv876, essv6251, essv15080, essv2082, essv9101, essv24134, essv24432, essv22336, essv10487, essv19594, essv9885, essv4733, essv19082, essv688, essv6593
SamplesNA19141, NA12717, NA19222, NA11830, NA19203, NA18621, NA18947, NA11995, NA19204, NA18862, NA18861, NA18508, NA12814, NA18524, NA18980, NA18855, NA18561, NA18507, NA19145, NA18999, NA18603, NA19092, NA12751, NA18545, NA12801, NA18504, NA12248, NA12146, NA18959, NA12865, NA10857, NA19098, NA18870, NA18526, NA18633, NA12155, NA07357, NA12813, NA19127, NA19192, NA19171, NA18944, NA19201, NA10846, NA12802, NA19119, NA18635, NA18960, NA18942, NA11992, NA07048, NA19138, NA18964, NA06993, NA19130, NA18949, NA18611, NA12761, NA12005, NA07019, NA12156, NA19137, NA12044, NA19207, NA19172, NA12815, NA19159, NA10855, NA19239, NA18975, NA18973, NA19200, NA11993, NA19007, NA10847, NA18951, NA18605, NA19210, NA12760, NA12752, NA07022, NA19194, NA10831, NA19152, NA12872, NA18956, NA18859, NA18515, NA18529, NA18637, NA18503, NA11839, NA18981, NA19208, NA19221, NA19202, NA18566, NA18573, NA19000, NA10830, NA18856, NA12249, NA12056, NA18912, NA19154, NA18532, NA12239, NA18853, NA19099, NA12707, NA19101, NA07345, NA12144, NA06985, NA18523, NA19132, NA18858, NA19012, NA18608, NA19094, NA18914, NA11882, NA19206, NA18542, NA06991, NA12716, NA18961, NA18952, NA18517, NA18863, NA10859, NA19140, NA19240, NA19100, NA12873, NA19144, NA19193, NA12874, NA07348, NA12763, NA07055, NA18594, NA19143, NA18501, NA06994, NA19223, NA19093, NA10860, NA18636, NA18521, NA18500, NA18506, NA18854, NA19116, NA18972, NA18552, NA07056, NA18505, NA19129, NA18968, NA18624, NA19139, NA18522, NA07034, NA18622, NA19153, NA18562, NA18577, NA18620, NA18997
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758328
Frequency
Sample Size270
Observed Gain119
Observed Loss51
Observed Complex0
Frequencyn/a


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